Biochemical Genetics of Neurologic Disease

Abstract

THERE have been major advances in the biochemical genetics of inherited neurologic disease during the past decade. The molecular basis for the pathogenesis of the sphingolipidoses,¹ the mucopolysaccharidoses,^{2 , 3} the glycogenoses,⁴ and the hereditary aminoacidopathies⁵ represent the most notable achievements. Additional important new developments include the finding of biochemical defects in several inherited ataxias,^{6 7 8 9} linkage to the HLA complex in patients with multiple sclerosis and myasthenia gravis,^{10 11 12} and the identification of variation in clinical features and corresponding molecular defects due to allelic and nonallelic mutations.^{13 , 14} Reports on cell-surface-membrane and cytoskeletal defects in several major genetic disorders,^{15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32} abnormalities in nerve-growth factor,^{33 34 35} and . . .